[Hypogonadism, basillary impression, subluxation of the lenses, and other clinical manifestations in a case of neurofibromatosis (author's transl)].
A case of neurofibromatosis with varied clinical symptoms due to parental consanguinity is reported. The patient presented the following manifestations: mental retardation, curved tibias, kyphoscoliosis, basillary impression with pyramidal syndrome and parkinsonism, subluxation of the lenses, bilateral blindness, and hypogonadism. Subluxation of the lenses and hypogonadism deserve special mention because of the rarity of their presentation in this disease. The hypogonadism was of the hypogonadotrophic type without evidence of pituitary or gonadal tumor. The possible causes of endocrine dysfunction in neurofibromatosis are discussed. The more likely hypothesis explains endocrine dysfunction on the basis of an elongation of the pituitary stem; if such abnormality was caused by gliosis of the optic chiasma, an explanation would be apparent for the bilateral blindness presented by our patient since infancy. The alterations of the nervous, endocrine, and osteoarticular systems, and the ocular manifestations that can be present in von Recklinghausen's disease are also reviewed.
D001766:Blindness / Q000209:etiology; D001847:Bone Diseases / Q000209:etiology; D003241:Consanguinity; D006801:Humans; D007006:Hypogonadism / Q000209:etiology*; D008607:Intellectual Disability / Q000209:etiology; D007906:Lens Subluxation / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D009422:Nervous System Diseases / Q000209:etiology; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics; D010902:Pituitary Gland / Q000473:pathology; D010985:Platybasia / Q000209:etiology*
Hipogonadismo, impresión basilar, subluxación de cristalino y otras manifestaciones en un caso de neurofibromatosis.